Variant report

Variant	nsv527076
Chromosome Location	chr4:149196991-149201619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6812904	chr4:149196991-149196992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540054994	chr4:149196996-149196997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553517232	chr4:149197070-149197071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573487403	chr4:149197071-149197072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144977347	chr4:149197090-149197091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555109017	chr4:149197101-149197102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548630286	chr4:149197244-149197245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138673441	chr4:149197312-149197313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200208486	chr4:149197339-149197340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9997290	chr4:149197354-149197355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184592828	chr4:149197355-149197356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149311710	chr4:149197393-149197394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368125649	chr4:149197427-149197428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540068793	chr4:149197460-149197461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560269749	chr4:149197502-149197503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529217195	chr4:149197503-149197504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549272271	chr4:149197529-149197530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188015312	chr4:149197548-149197549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77433708	chr4:149197565-149197566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370457485	chr4:149197573-149197574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191717241	chr4:149197605-149197606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539919195	chr4:149197609-149197610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546924973	chr4:149197628-149197629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6844424	chr4:149197650-149197651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2115798	chr4:149197674-149197675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544545296	chr4:149197835-149197836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556027808	chr4:149197852-149197853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112855408	chr4:149197857-149197858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575503682	chr4:149197867-149197868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183808497	chr4:149197872-149197873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2163172	chr4:149197893-149197894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188527143	chr4:149197921-149197922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540316272	chr4:149197923-149197924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61760311	chr4:149197930-149197931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559954338	chr4:149197933-149197934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573784723	chr4:149198038-149198039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542431634	chr4:149198050-149198051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562788692	chr4:149198124-149198125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576114996	chr4:149198202-149198203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61760312	chr4:149198214-149198215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369398173	chr4:149198259-149198260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551023584	chr4:149198301-149198302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564470319	chr4:149198317-149198318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533505984	chr4:149198363-149198364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375686276	chr4:149198387-149198388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17484357	chr4:149198415-149198416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs77295069	chr4:149198458-149198459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536066785	chr4:149198467-149198468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6535597	chr4:149198487-149198488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569243519	chr4:149198491-149198492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149192400-149209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:149194200-149198000	Enhancers	Fetal Intestine Small	intestine
3	chr4:149194400-149216400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:149194600-149198000	Enhancers	Fetal Intestine Large	intestine
5	chr4:149195000-149198800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149195000-149204200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:149195200-149197600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:149195200-149197600	Weak transcription	Brain Substantia Nigra	brain
9	chr4:149195200-149198800	Weak transcription	Lung	lung
10	chr4:149195200-149198800	Weak transcription	Psoas Muscle	Psoas
11	chr4:149195200-149203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:149195200-149207600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:149195600-149203200	Weak transcription	Right Ventricle	heart
14	chr4:149195600-149203600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:149195600-149204000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:149195800-149203600	Weak transcription	Liver	Liver
17	chr4:149195800-149205000	Weak transcription	Gastric	stomach
18	chr4:149196200-149203800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:149196400-149197200	Weak transcription	Stomach Mucosa	stomach
20	chr4:149196800-149198800	Weak transcription	Left Ventricle	heart
21	chr4:149196800-149202800	Weak transcription	Fetal Heart	heart
22	chr4:149196800-149209600	Weak transcription	Pancreas	Pancrea
23	chr4:149197200-149197400	Enhancers	Stomach Mucosa	stomach
24	chr4:149197400-149203800	Weak transcription	Stomach Mucosa	stomach
25	chr4:149197600-149197800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:149197600-149198200	Enhancers	Brain Substantia Nigra	brain
27	chr4:149198000-149203200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:149198800-149199200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:149198800-149199600	Enhancers	Left Ventricle	heart
30	chr4:149198800-149199600	Enhancers	Lung	lung
31	chr4:149198800-149199800	Enhancers	Psoas Muscle	Psoas
32	chr4:149199200-149203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:149199600-149209600	Weak transcription	Left Ventricle	heart
34	chr4:149199800-149203600	Weak transcription	Psoas Muscle	Psoas

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